Canonical Allele Identifier: CA356803682

Gene: GABRG1

Linked Data

• COSMIC: COSM1739050
• MyVariant Identifiers: chr4:g.46125861C>G (hg19) ; chr4:g.46123844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46123844C>G , CM000666.2:g.46123844C>G	GRCh38
NC_000004.11:g.46125861C>G , CM000666.1:g.46125861C>G	GRCh37
NC_000004.10:g.45820618C>G	NCBI36
NG_046964.1:g.5222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295452.5:c.70G>C MANE Select	ENSP00000295452.4:p.Val24Leu
ENST00000295452.4:c.70G>C	ENSP00000295452.4:p.Val24Leu
NM_173536.3:c.70G>C	NP_775807.2:p.Val24Leu
NM_173536.4:c.70G>C MANE Select	NP_775807.2:p.Val24Leu